ONTOLOGY REPORT - ANNOTATIONS


Term:acromesomelic dysplasia, Hunter-Thompson type
go back to main search page
Accession:DOID:0080051 term browser browse the term
Definition:An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (DO)
Synonyms:exact_synonym: AMDH;   acromesomelic dwarfism
 primary_id: OMIM:201250
 alt_id: RDO:0000908
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      endocrine system disease 4666
        Dwarfism 300
          acromesomelic dysplasia 4
            acromesomelic dysplasia, Hunter-Thompson type 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              Dwarfism 300
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Hunter-Thompson type 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.